L4V (p.Leu4Val) variant of TRMU (O75648)
L4V (p.Leu4Val) in TRMU (O75648) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of not specified; not provided; Acute infantile liver failure due to synthesis defe. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
L4V (p.Leu4Val) variant details
- p.Leu4Val
- rs114302881
- ClinGen CA291390
- cosmic curated COSV10733
- ClinVar RCV000125610
- Benign
- not specified; not provided; Acute infantile liver failure due to synthesis defe
- Missense
- Variant Prioritization Score for Impact Estimate 0.143
- REVEL 0.06
- ESM-1b 0.00
- AlphaMissense 0.05
- CADD 10.90
- PolyPhen-2 0.00
- SIFT 0.89
- ClinVar: Benign (not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:FIN population (allele frequency 0.071)
- Structural context available
- Cited in: TRMU Deficiency. (PMID 37184193)